rs4481150

This is a intron variant variant in the ITIH3 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

red blood cell density

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR —
p 1.0e-20
N 727,624
Large GWAS
multi-ancestry

bipolar disorder

Yao X et al. “Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.” Translational Psychiatry 11(1):69 (2021)
Allele T
OR 0.08
p 5.0e-14
N 51,710
Large GWAS
European

schizophrenia

Yao X et al. “Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.” Translational Psychiatry 11(1):69 (2021)
Allele T
OR 0.08
p 1.0e-13
N 77,096
Large GWAS
European

autism spectrum disorder

Yao X et al. “Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.” Translational Psychiatry 11(1):69 (2021)
Allele T
OR 0.07
p 9.0e-9
N 46,350
Large GWAS
European

About ITIH3

This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]

View all ITIH3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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